Research Topics
Genomes and Genes | S M HollandSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
|
Detail Information
Publications
Evaluation of the patient with recurrent bacterial infectionsS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Med 49:185-99. 1998..The diseases and syndromes most frequently associated with recurrent infection are presented, along with discriminating clinical, pathologic, and microbiologic features...
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilonJ A Lekstrom-Himes
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
J Exp Med 189:1847-52. 1999....- IFN-gamma is effective in reducing infections in the mouse model of chronic granulomatous disease (CGD)S H Jackson
The Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD 20892, USA
J Interferon Cytokine Res 21:567-73. 2001..This animal model demonstrates a prophylactic benefit of IFN-gamma similar to that seen in humans and provides an opportunity to investigate the mechanism(s) of action for IFN-gamma in CGD... - Efficacies of fluconazole, caspofungin, and amphotericin B in Candida glabrata-infected p47phox-/- knockout miceJustina Y Ju
Clinical Mycology Section, Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Antimicrob Agents Chemother 46:1240-5. 2002..This murine model provided evidence of the efficacy of amphotericin B and caspofungin but not of fluconazole against C. glabrata infection... 
Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestationsA F Freeman
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Oral Dis 15:2-7. 2009..In this review, we discuss the clinical phenotype of HIES including immunologic and non-immunologic features, the genetics of HIES, and treatment...- Chronic granulomatous diseaseSteven M Holland
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
Hematol Oncol Clin North Am 27:89-99, viii. 2013..Therefore, CGD is worthy of attention for its historical interest and because it is a disease for which expert management is imperative... - Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association studyNoffisat O Oki
Bioinformatics Research Center, Department of Statistics, North Carolina State University, Raleigh, NC, USA
BMC Res Notes 4:28. 2011..abstract:.. - Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosisAlison A Motsinger-Reif
Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
BMC Med Genet 11:37. 2010..Human genetic variants may affect tuberculosis susceptibility, but the immunologic correlates of the genetic variants identified are often unclear... - STAT3 mutations in the hyper-IgE syndromeSteven M Holland
National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
N Engl J Med 357:1608-19. 2007..Inheritance is autosomal dominant; sporadic cases are also found... - Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infectionS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, 11N103, 10 Center Dr, MSC 1886, Bethesda, MD 20892 1886, USA
Microbes Infect 2:1579-90. 2000..Better understanding of the critical elements of the cytokine pathways may show us ways to circumvent these defects with complementary cytokine cascades... - Chronic granulomatous diseaseSteven M Holland
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 1684, USA
Clin Rev Allergy Immunol 38:3-10. 2010..Some of the recent developments in infectious syndromes, inflammatory complications, and curative approaches are discussed in this review... - Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunitySteven M Holland
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141 MSC 1684, Bethesda, MD 20892 1684, USA
Immunol Res 38:342-6. 2007.... - Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiencyS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
J Infect Dis 178:1095-104. 1998..An abnormal phenotype was not found in heterozygous patient relatives. These patients demonstrate the critical role that the IFN-gamma receptor plays in the regulation of IFN-gamma, IL-12, and TNF-alpha... - Nontuberculous mycobacteriaS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
Am J Med Sci 321:49-55. 2001..Thus, the search for genetic and acquired susceptibility to nontuberculous mycobacteria is also a search for susceptibility factors for MTB as well as an opportunity to recognize endogenous pathways that can be exploited therapeutically... - Immunotherapy of mycobacterial infectionsS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Semin Respir Infect 16:47-59. 2001..In this article, the critical pathways and some of the relevant cytokines and studies are reviewed. This is a US government work. There are no restrictions on its use... - Genetic demonstration of p47phox-dependent superoxide anion production in murine vascular smooth muscle cellsM C Lavigne
Laboratory of Host Defenses, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA
Circulation 104:79-84. 2001.... - Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous diseaseH L Malech
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, MSC 1886, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 94:12133-8. 1997..These features enhance the safety of PBSCs directed gene therapy... - Virulence of catalase-deficient aspergillus nidulans in p47(phox)-/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous diseaseY C Chang
Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Invest 101:1843-50. 1998..Taken together, these results indicate that catalases do not play a significant role in pathogenicity of A. nidulans in p47(phox)-/- mice, and therefore raise doubt about the central role of catalases as a fungal virulence factor in CGD... - Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous diseaseM Mardiney
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1886, USA
Blood 89:2268-75. 1997..001). Thus, stem-cell-directed ex vivo gene therapy is capable of restoring phagocyte oxidant-dependent host-defense function in this mouse model of a human immune-system disorder... - The p47(phox-/-) mouse model of chronic granulomatous disease has normal granuloma formation and cytokine responses to Mycobacterium avium and Schistosoma mansoni eggsB H Segal
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Infect Immun 67:1659-65. 1999..Appropriate regression of established tissue granulomata in p47(phox-/-) mice challenged with SME suggests that abnormal granuloma formation in CGD is stimulus dependent and is not an invariant feature of the disease... - Disseminated trichosporonosis in a murine model of chronic granulomatous diseaseShannon H Lacy
Veterinary Pathology Section, Veterinary Resources Program, Office of Research Services, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Comp Med 53:303-8. 2003..We discuss the lesions, differential diagnosis, identification of the organism, and the role of NADPH oxidase in protecting against disseminated trichosporonosis... - The relationship between alloimmunization and posttransfusion granulocyte survival: experience in a chronic granulomatous disease cohortK F Heim
Department of Transfusion Medicine and Laboratory Medicine, Warren Grant Magnuson Clinical Center and the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1184, USA
Transfusion 51:1154-62. 2011.... - Genetic requirement of p47phox for superoxide production by murine microgliaM C Lavigne
Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD 20892, USA
FASEB J 15:285-7. 2001..These data provide genetic proof that p47phox is necessary for superoxide release by microglial cells and indicate that a system related to the phagocyte oxidase is active in these cells... - Detection of intracellular phosphorylated STAT-4 by flow cytometryG Uzel
Immunology Service, Warren Grant Magnuson Clinical Center, Bethesda, Maryland 20892, USA
Clin Immunol 100:270-6. 2001..Using this flow cytometry-based method, we should be able to detect patients with defects in IL-12 receptor signal transduction, who typically present with disseminated nontuberculous mycobacterial infections... - Vascular effects following homozygous disruption of p47(phox) : An essential component of NADPH oxidaseE Hsich
Laboratory of Molecular Biology, National Heart, Lung, and Blood Institute, and the Laboratory of Host Defenses, National Institute of Health, Bethesda, MD 20892, USA
Circulation 101:1234-6. 2000..We tested the contribution of this specific oxidase to the progression of atherosclerosis and the regulation of blood pressure... - Reinfection, rather than persistent infection, in patients with chronic granulomatous diseaseShireen V Guide
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases and Clinical Research Training Program/NIH, 10 Center Drive, Bethesda, MD 20892, USA
J Infect Dis 187:845-53. 2003..001). Recurrent S. aureus infections were caused by new strains in 7 of 8 cases (P=.006). In patients with CGD, recurrence of infection with the same bacterial species after appropriate antibiotic therapy usually represents new infection... - Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograftM E Horwitz
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 344:881-8. 2001..We investigated the feasibility of stem-cell transplantation without ablation of the recipient's bone marrow... - Neosartorya udagawae (Aspergillus udagawae), an emerging agent of aspergillosis: how different is it from Aspergillus fumigatus?J A Sugui
Laboratory of Clinical Infectious Diseases, National Institutes of Health, 10 Center Drive, RM 11N234, Bethesda, MD 20892, USA
J Clin Microbiol 48:220-8. 2010..These findings suggest that growth and susceptibility to the host response might account for the reduced virulence of N. udagawae and the subtle distinction in the progression of the disease caused by the two species... - Cloning and functional expression of the mouse homologue of p47phoxS H Jackson
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892
Immunogenetics 39:272-5. 1994 - Phagocyte NADPH oxidase, but not inducible nitric oxide synthase, is essential for early control of Burkholderia cepacia and chromobacterium violaceum infection in miceBrahm H Segal
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Infect Immun 71:205-10. 2003.... - Recurrent Burkholderia infection in patients with chronic granulomatous disease: 11-year experience at a large referral centerDavid E Greenberg
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Clin Infect Dis 48:1577-9. 2009..We found that recurrent pulmonary infection with distinct Burkholderia strains is common in chronic granulomatous disease... - Familial clustering of pulmonary nontuberculous mycobacterial diseaseRhonda E Colombo
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Clinical Center, National Institutes of Health, Bethesda, MD 20892 1888, USA
Chest 137:629-34. 2010..Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined... - Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiencyDonald C Vinh
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1684, USA
Clin Infect Dis 49:e62-5. 2009..Therefore, the interleukin-12/interferon-gamma axis appears to be critical for control of coccidioidomycosis... - Clinical features of dominant and recessive interferon gamma receptor 1 deficienciesSusan E Dorman
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, CRC B3 419, 10 Center Drive, MSC 1684, Bethesda, MD 20892 1684, USA
Lancet 364:2113-21. 2004..We aimed to compare the clinical features of recessive and dominant IFNgammaR1 deficiencies... - Genetic linkage of hyper-IgE syndrome to chromosome 4B Grimbacher
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4442, USA
Am J Hum Genet 65:735-44. 1999..Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES... - Respiratory syncytial virus infection in patients with phagocyte defectsG Uzel
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1886, USA
Pediatrics 106:835-7. 2000..Viral cultures as well as rapid antigen detection assays for respiratory viruses should be included in the evaluation of LRTI in patients with phagocyte defects. respiratory syncytial virus, phagocyte, immunodeficiency, pneumonia... - Immune deficiency presenting as mycobacterial infectionS M Holland
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bldg 10, 11N103, 10 Center Dr, MSC 1886 Bethesda, MD 20892-1886, USA
Clin Rev Allergy Immunol 20:121-37. 2001..Dissection of these pathways, identification of the most proximal factors, and exploitation of these findings for the treatment of mycobacterial and other intracellular infections is the critical charge for the future... - Update on phagocytic defectsSteven M Holland
National Instute of Allergy and Infectious Diseases, National Instututes of Health, Bethesda, MD, USA
Pediatr Infect Dis J 22:87-8. 2003 - Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infectionsSmita Y Patel
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA
J Immunol 175:4769-76. 2005..In contrast, this anti-IFN-gamma Ab had no effect on IFN-alpha-dependent STAT-1 phosphorylation. These patients confirm a novel syndrome linking autoimmunity and immunodeficiency... - Polymorphisms associated with resistance and cross-resistance to aminoglycosides and capreomycin in Mycobacterium tuberculosis isolates from South Korean Patients with drug-resistant tuberculosisLaura E Via
Tuberculosis Research Section, Laboratory of Clinical Infectious Disease, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, USA
J Clin Microbiol 48:402-11. 2010.... - Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infectionS E Dorman
Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
J Clin Invest 101:2364-9. 1998..This novel gene defect associated with disseminated nontuberculous mycobacterial infection emphasizes the critical role that IFN-gamma plays in host defense against mycobacteria... - Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signalingM H Haverkamp
Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef, Postbus 9600, 2300 RC Leiden, The Netherlands
Microbes Infect 8:1157-66. 2006..These rare defects have led to better molecular and mechanistic understanding of the role of IFN-gamma in the human immune system... - Nocardia kruczakiae sp. nov., a pathogen in immunocompromised patients and a member of the "N. nova complex"Patricia S Conville
Microbiology Service, Department of Laboratroy Medicine, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1508, USA
J Clin Microbiol 42:5139-45. 2004..nova complex" can be used to designate isolates such as these that phenotypically resemble N. nova but that have not been definitively characterized by 16S rRNA gene sequencing or DNA-DNA hybridization... - The research agenda of the National Institute of Allergy and Infectious Diseases for antimicrobial resistanceN Kent Peters
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 6603, USA
J Infect Dis 197:1087-93. 2008..The basic and clinical research supported by NIAID will, ideally, continue to yield profound rewards in terms of the understanding, diagnosis, and treatment of infectious diseases... - Mycobacterium abscessus and M. avium trigger Toll-like receptor 2 and distinct cytokine response in human cellsElizabeth P Sampaio
Laboratory of Clinical Infectious Diseases, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892 1684, USA
Am J Respir Cell Mol Biol 39:431-9. 2008..We concluded that MAB signals human cells through MAPK and TLR2 pathways and triggers more pronounced pro-inflammatory cytokines and chemokines than MAV... - Dermatitis and the newborn rash of hyper-IgE syndromeCheryl Lee D Eberting
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892 1908, USA
Arch Dermatol 140:1119-25. 2004..To characterize the dermatitis, the newborn rash, and cutaneous findings in hyper-IgE syndrome, also known as Job's syndrome... - Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)Gulbu Uzel
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bethesda, MD, USA
Blood 111:209-18. 2008..The discovery of 3 cases of reversion mutations in LAD-1 at one center suggests that this may be a relatively common event in this rare disease... - Genome sequence analysis of the emerging human pathogenic acetic acid bacterium Granulibacter bethesdensisDavid E Greenberg
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, U S Department of Health and Human Services, Bethesda, MD 20892 1684, USA
J Bacteriol 189:8727-36. 2007..G. bethesdensis is a genetically diverse emerging human pathogen that may have recently acquired virulence factors new to this family of organisms... - Diverse herpes simplex virus type 1 thymidine kinase mutants in individual human neurons and GangliaKening Wang
Medical Virology Section, Laboratory of Clinical Infectious Disease, NIAID NIH, Building 10, Room 11N 234, 10 Center Dr, Bethesda, MD 20892, USA
J Virol 81:6817-26. 2007..These data suggest that diverse tk mutants arise independently under drug selection and establish latency in human sensory ganglia alone or together with wild-type virus... - Granulibacter bethesdensis gen. nov., sp. nov., a distinctive pathogenic acetic acid bacterium in the family AcetobacteraceaeDavid E Greenberg
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, US Department of Health and Human Services, Bethesda, MD 20892, USA
Int J Syst Evol Microbiol 56:2609-16. 2006..nov., sp. nov. is proposed. The type strain is CGDNIH1T (=ATCC BAA-1260T=DSM 17861T)... - Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibitionRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 355:581-92. 2006..Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation... - Linezolid-resistant Staphylococcus aureus in two pediatric patients receiving low-dose linezolid therapySusanne M Roberts
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, U.S. Department of Health and Human Services, Bethesda, MD 20892, USA
Pediatr Infect Dis J 25:562-4. 2006..LZD-susceptible S. aureus was isolated 2 months after LZD discontinuation. LZD-resistant S. aureus remains rare but may occur while receiving suppressive therapy... - A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous diseaseDavid E Greenberg
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
PLoS Pathog 2:e28. 2006..This is the first reported case of invasive human disease caused by any of the Acetobacteraceae. Polyphasic taxonomic analysis shows this organism to be a new genus and species for which we propose the name Granulobacter bethesdensis... - "Mycobacterium tilburgii," a newly described, uncultivated opportunistic pathogenTara N Palmore
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
J Clin Microbiol 47:1585-7. 2009..The case illustrates the diagnostic utility of sequence analysis of the 16S rRNA gene directly from clinical specimens... - Cohort study of molecular identification and typing of Mycobacterium abscessus, Mycobacterium massiliense, and Mycobacterium bolletiiAdrian M Zelazny
Microbiology Service, Department of Laboratory Medicine, NIAD, National Institutes of Health, Bethesda, MD 20892, USA
J Clin Microbiol 47:1985-95. 2009..abscessus and closely related species. Molecular typing complements sequence-based identification and provides information on prevalent clones with possible relevant clinical aspects... - A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fracturesChristine L Tock
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892-1908, USA
J Am Acad Dermatol 50:627-9. 2004 - Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitisGulbu Uzel
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Clin Infect Dis 51:1429-34. 2010..Management of CGD colitis is a challenge because standard immunosuppressive therapy increases the risk of infection in already immunocompromised hosts... - Spontaneous Staphylococcus xylosus infection in mice deficient in NADPH oxidase and comparison with other laboratory mouse strainsAlfonso S Gozalo
Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA
J Am Assoc Lab Anim Sci 49:480-6. 2010..This report expands the range of mouse strains and tissues and organs susceptible to spontaneous S. xylosus infection and compares the pathology among various mice strains... - Recurrent Granulibacter bethesdensis infections and chronic granulomatous diseaseDavid E Greenberg
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
Emerg Infect Dis 16:1341-8. 2010..This organism is multidrug resistant, and therapy required surgery and combination antimicrobial drugs, including long-term ceftriaxone. G. bethesdensis causes necrotizing lymphadenitis in CGD, which may recur or relapse... - Nontuberculous mycobacterial lung disease prevalence at four integrated health care delivery systemsD Rebecca Prevots
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Respir Crit Care Med 182:970-6. 2010..Single-site clinic-based studies suggest an increasing prevalence of pulmonary nontuberculous mycobacteria (NTM) disease, but systematic data are lacking... - Hyper IgE syndrome: review and future directionsAlexandra F Freeman
National Institute of Allergy and Infectious Disease, National Institutes of Health, Building 10, CRC B3 4141, MSC 1684, Bethesda, MD 20892 1684, USA
Expert Rev Clin Immunol 1:645-51. 2005..Identification of the genetic etiology or etiologies of this syndrome will allow for targeted therapies as well as great advances in understanding the connections between immunologic function and connective tissue... - Antisense phosphorodiamidate morpholino oligomers targeted to an essential gene inhibit Burkholderia cepacia complexDavid E Greenberg
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Office of Research Services, National Institutes of Health, Bethesda, Maryland, USA
J Infect Dis 201:1822-30. 2010..Many Bcc strains are antibiotic resistant, which requires the exploration of novel antimicrobial approaches, including antisense technologies such as phosphorodiamidate morpholino oligomers (PMOs)... - High-dose continuous infusion beta-lactam antibiotics for the treatment of resistant Pseudomonas aeruginosa infections in immunocompromised patientsBrad Moriyama
National Institutes of Health Clinical Center Pharmacy Department, Bethesda, MD 20892, USA
Ann Pharmacother 44:929-35. 2010..To report a case series of high-dose continuous infusion beta-lactam antibiotics for the treatment of resistant Pseudomonas aeruginosa infections... - In vivo lipid-derived free radical formation by NADPH oxidase in acute lung injury induced by lipopolysaccharide: a model for ARDSKeizo Sato
Free Radical Metabolite Section, Laboratory of Pharmacology and Chemistry, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
FASEB J 16:1713-20. 2002..Rats treated intratracheally with LPS generate lipid-derived free radicals via activation of NADPH oxidase... - Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiographyAhmed M Gharib
Department of Radiology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Clinical Research Center, Bethesda, MD 20892, USA
AJR Am J Roentgenol 193:W478-81. 2009..Such an evaluation has potential value in identifying new aspects of this disease and thereby providing better understanding of the pathophysiology of the disorder... - Nocardia veterana as a pathogen in North American patientsPatricia S Conville
Microbiology Service, Department of Laboratory Medicine, Warren G Magnuson Clinical Center, National Institutes of Health, U S Department of Health and Human Services, Bethesda, Maryland 20892, USA
J Clin Microbiol 41:2560-8. 2003..veterana from the related species Nocardia africana and N. nova because of the very high degree of 16S rRNA gene similarity among them... - Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairmentBeverly N Hay
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 125:145-51. 2004..This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley-Liss, Inc... - Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndromeAlexandra F Freeman
National Institute of Allergy and Infectious Disease, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Pediatrics 118:e1271-5. 2006..Our experience suggests that P. jiroveci can cause pneumonia in patients with hyper-immunoglobulin E syndrome both with and without chronic lung disease... - Virulence and cellular interactions of Burkholderia multivorans in chronic granulomatous diseaseAdrian M Zelazny
Microbiology Service, Department of Laboratory Medicine, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, USA
Infect Immun 77:4337-44. 2009..Taken together, these results may shed light on the unique susceptibility of CGD patients to specific pathogens... - Antimicrobial prophylaxis for primary immunodeficienciesAlexandra F Freeman
Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland 20892, USA
Curr Opin Allergy Clin Immunol 9:525-30. 2009..Antibiotic prophylaxis is one of the mainstays of therapy of primary immunodeficiencies. We aim to summarize what is known about antibiotic prophylaxis for select primary immunodeficiencies... - Immunodeficiency secondary to anticytokine autoantibodiesSarah K Browne
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Curr Opin Allergy Clin Immunol 10:534-41. 2010..We will review the clinical and laboratory features of syndromes in which immunodeficiency is caused by or associated with neutralizing anticytokine autoantibodies... - Intrathoracic nontuberculous mycobacterial infections in otherwise healthy childrenAlexandra F Freeman
SAIC Frederick, Inc, NCI Frederick, Frederick, Maryland 27102, USA
Pediatr Pulmonol 44:1051-6. 2009..It does not appear to be associated with recognized underlying immune deficiency or CFTR mutations... - Clinical manifestations of hyper IgE syndromesAlexandra F Freeman
Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
Dis Markers 29:123-30. 2010..The identification of these genetic etiologies is leading to advances in understanding the pathogenesis of these syndromes with the goal of improving treatment... - Acupuncture for symptom management in patients with hyper-IgE (Job's) syndromeAdeline X Y Ge
National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
J Altern Complement Med 17:71-6. 2011..The objective of this study was to investigate the effects of acupuncture treatment for symptom management in patients with hyper-immunoglobulin E (IgE) syndrome (HIES)... - Novel intraoral phenotypes in hyperimmunoglobulin-E syndromeD L Domingo
National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA
Oral Dis 14:73-81. 2008..This study aims to characterize intraoral soft tissue findings in HIES patients... - Successful renal transplantation in patients with chronic granulomatous diseaseA Bolanowski
Department of Surgery, National Naval Medical Center, Bethesda, Maryland, USA
Am J Transplant 6:636-9. 2006..These case reports also highlight the unexpectedly benign effects of immunosuppressive therapy in this patient population... - Th1 T-cell and monocyte defectsG Uzel
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Clin North Am 47:1275-89. 2000..In this article, the authors review the interaction of T cells and monocytes in the context of host defense against intracellular pathogens. Known genetic defects in these pathways are summarized... - Infections with Haemophilus species in chronic granulomatous disease: insights into the interaction of bacterial catalase and H2O2 productionS Kottilil
Laboratory of Immunoregulation, NIAID, NIH, Bethesda, MD 20892, USA
Clin Immunol 106:226-30. 2003..These are the first reports of NHI Haemophilus species in CGD and reinforce the critical need for careful microbiologic evaluation of infections in CGD patients... - Disseminated nocardiosis in a patient with X-linked chronic granulomatous disease and human immunodeficiency virus infectionI Sereti
Laboratory of Immunoregulation, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1886, USA
Clin Infect Dis 33:235-9. 2001.... - Human immunodeficiency virus-seronegative adults with extrapulmonary tuberculosis have abnormal innate immune responsesT R Sterling
Division of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Clin Infect Dis 33:976-82. 2001.... - Dysfunctional LAD-1 neutrophils and colitisG Uzel
Immunology Services, Department of Laboratory Medicine, National Cancer Institute NIH, Bethesda, Maryland, USA
Gastroenterology 121:958-64. 2001..The existence of active IBD in the presence of dysfunctional CD18/CD11(a-b) intercellular adhesion molecules (ICAM-1) interaction is relevant to the proposed targeting of ICAM-1 for the treatment of Crohn's disease... - The p47phox mouse knock-out model of chronic granulomatous diseaseS H Jackson
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1886, USA
J Exp Med 182:751-8. 1995..This model mirrors human CGD and confirms a critical role for the phagocyte NADPH oxidase in mammalian host defense... - Diagnostic assays for chronic granulomatous disease and other neutrophil disordersHouda Zghal Elloumi
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Methods Mol Biol 412:505-23. 2007..The assays are relatively simple to perform, cost-effective, and can be performed with equipment available in most laboratories... - Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndromeRichard D Kim
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892 1684, USA
Am J Respir Crit Care Med 178:1066-74. 2008..Pulmonary nontuberculous mycobacterial (PNTM) disease is increasing, but predisposing features have been elusive... - A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous statesSergio D Rosenzweig
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Immunol 173:4000-8. 2004..The mutant construct 791delG exerts dominant negative effects on IFN-gamma signaling without cell surface display, suggesting that it is acting on pathways other than those involved in cell surface recognition of ligand... - Invasive aspergillosis due to Neosartorya udagawaeDonald C Vinh
Sections of Immunopathogenesis, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD 20892 1684, USA
Clin Infect Dis 49:102-11. 2009..However, genetic-based methods indicate that organisms phenotypically identified as A. fumigatus actually constitute a mold complex, designated Aspergillus section fumigati subgenus fumigati... - Leukocyte adhesion deficiency in children and Irish setter dogsThomas R Bauer
Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, 10 Center MSC1907, Building 10, Room 12C116, Bethesda, MD 20892, USA
Pediatr Res 55:363-7. 2004.... - The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediatorsM Centola
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Instiutes of Health, Bethesda, MD 20892 1820, USA
Blood 95:3223-31. 2000..These results refine understanding of MEFV by placing the gene in the myelomonocytic-specific proinflammatory pathway and identifying it as an IFN-gamma immediate early gene... - A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triadJay R Montgomery
USN, National Naval Medical Center, Bethesda, Maryland 20889, USA
J Am Acad Dermatol 51:377-82. 2004..This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad... - Gastrointestinal involvement in chronic granulomatous diseaseBeatriz E Marciano
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Pediatrics 114:462-8. 2004..The frequency of GI involvement is unaffected by the use of interferon-gamma and does not affect mortality. GI involvement should be sought in patients who have CGD with abdominal pain, growth delay, or hypoalbuminemia... - Chronic invasive aspergillosis caused by Aspergillus viridinutansDonald C Vinh
National Institutes of Health, Bethesda, Maryland 20892 1684, USA
Emerg Infect Dis 15:1292-4. 2009..Disease was distinct from typical aspergillosis, being chronic and spreading in a contiguous manner across anatomical planes. We emphasize the recognition of fumigati-mimetic molds as agents of chronic or refractory aspergillosis... - Analysis of adhesion molecules, target cells, and role of IL-2 in human FOXP3+ regulatory T cell suppressor functionDat Q Tran
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Immunol 182:2929-38. 2009..Taken together, one of the mechanisms of Treg-mediated suppression functions across species and mediates an LFA-1/ICAM-1-dependent interaction between Tregs and DCs... - Interferon-gamma receptor 1 promoter polymorphisms: population distribution and functional implicationsSergio D Rosenzweig
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, DHHS, Bethesda, MD 20892 1886, USA
Clin Immunol 112:113-9. 2004..The IFNGR1 MPR is a polymorphic region with at least two SNPs influencing its activity, but these are not associated with increased mycobacterial susceptibility... - Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasiaDonald C Vinh
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Blood 115:1519-29. 2010..This novel clinical syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern... - Pathogenesis of hyper IgE syndromeJennifer Heimall
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1684, USA
Clin Rev Allergy Immunol 38:32-8. 2010..Better understanding of the pathophysiology and mechanisms of dominant and recessive hyper IgE syndromes will shed light on somatic and immune biology and may improve quality of life and survival for HIES patients... - Long-term interferon-gamma therapy for patients with chronic granulomatous diseaseBeatriz E Marciano
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Clin Infect Dis 39:692-9. 2004..The overall mortality rate was 1.5% per patient-year. CONCLUSION: IFN-gamma prophylaxis for CGD appears to be effective and well tolerated over a prolonged period of time... - White blood cell defects: molecular discoveries and clinical managementGulbu Uzel
Laboratory of Host Defenses, NIAID, NIH, 10 Center Drive, MSC 1886, Bethesda, MD 20892-1886, USA
Curr Allergy Asthma Rep 2:385-91. 2002..Neutrophil-specific granule deficiency and neutrophil elastase deficiency are discussed, the latter being the molecular defect in both cyclic neutropenia and in some sporadic cases of severe congenital neutropenia... - Invasive infection with Trichosporon inkin in 2 siblings with chronic granulomatous diseaseSarah M Wynne
NIAID, NIH, Bethesda, MD 20892, USA
J Allergy Clin Immunol 114:1418-24. 2004..There are 9 previously reported cases of invasive infections caused by T inkin , 3 of which are in patients with CGD. All patients required removal of infected prosthetic devices or surgical resection of infected tissue for cure... - Thioglycollate peritonitis in mice lacking C5, 5-lipoxygenase, or p47(phox): complement, leukotrienes, and reactive oxidants in acute inflammationBrahm H Segal
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
J Leukoc Biol 71:410-6. 2002..These data suggest that LTB(4) and C5a have separate but overlapping roles in thioglycollate-elicited peritonitis, and at least the leukotriene component is, in turn, regulated by reactive oxidants... - Complex regulation of human cathelicidin gene expression: novel splice variants and 5'UTR negative regulatory elementHouda Zghal Elloumi
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, CRC B3 4141, MSC 1684, Bethesda, MD 20892, USA
Mol Immunol 45:204-17. 2008..Negative and positive regulatory elements within the hCAP18 gene promoter provide new insights into the possible molecular basis of myeloid gene expression... - Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous diseaseSophia Siddiqui
Laboratory of Immune Regulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Clin Infect Dis 45:673-81. 2007..In patients with CGD, invasive pulmonary infection with Aspergillus species remains the greatest cause of mortality and is typically insidious in onset. Acute fulminant presentations of fungal pneumonia are catastrophic...